Canonical Allele Identifier: CA17964494
Gene: MAD2L2 HGNC NCBI

Linked Data

dbSNP Id: rs74497137
gnomAD v3: 1-11676488-G-C
gnomAD v4: 1-11676488-G-C
MyVariant Identifiers: chr1:g.11676488G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11676488G>C , CM000663.2:g.11676488G>C GRCh38
NC_000001.10:g.11736545G>C , CM000663.1:g.11736545G>C GRCh37
NC_000001.9:g.11659132G>C NCBI36
NG_052907.1:g.20301C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000376664.11:n.448-348C>G
ENST00000456915.2:c.333-348C>G ENSP00000400982.2:n.333-348C>G
ENST00000697273.1:c.*152-348C>G ENSP00000513220.1:n.*152-348C>G
ENST00000697274.1:c.333-348C>G ENSP00000513221.1:n.333-348C>G
ENST00000376692.9:c.333-348C>G MANE Select ENSP00000365882.4:n.333-348C>G
ENST00000235310.7:c.333-348C>G ENSP00000235310.2:n.333-348C>G
ENST00000376664.10:n.418-348C>G
ENST00000376667.7:c.333-348C>G ENSP00000365855.3:n.333-348C>G
ENST00000376669.9:c.371+321C>G ENSP00000365857.5:n.371+321C>G
ENST00000376672.5:c.371+321C>G ENSP00000365860.1:n.371+321C>G
ENST00000376692.8:c.333-348C>G ENSP00000365882.4:n.333-348C>G
ENST00000445656.5:c.423-348C>G ENSP00000411807.1:n.423-348C>G
ENST00000456915.1:c.333-348C>G ENSP00000400982.1:n.333-348C>G
NM_001127325.1:c.333-348C>G NP_001120797.1:n.333-348C>G
NM_006341.3:c.333-348C>G NP_006332.3:n.333-348C>G
XM_011540507.1:c.333-348C>G XP_011538809.1:n.333-348C>G
XM_024450407.1:c.423-348C>G XP_024306175.1:n.423-348C>G
NM_006341.4:c.333-348C>G MANE Select NP_006332.3:n.333-348C>G
NM_001127325.2:c.333-348C>G NP_001120797.1:n.333-348C>G